Canonical Allele Identifier: CA286581916

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs1044766484
• gnomAD v2: 17-2541426-G-A
• gnomAD v3: 17-2638132-G-A
• gnomAD v4: 17-2638132-G-A
• MyVariant Identifiers: chr17:g.2541426G>A (hg19) ; chr17:g.2638132G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2638132G>A , CM000679.2:g.2638132G>A	GRCh38
NC_000017.10:g.2541426G>A , CM000679.1:g.2541426G>A	GRCh37
NC_000017.9:g.2488176G>A	NCBI36
NG_009799.1:g.49504G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.-157G>A MANE Select	ENSP00000380378.4:n.-157G>A
ENST00000674608.1:c.-157G>A	ENSP00000501976.1:n.-157G>A
ENST00000674717.1:c.-192G>A	ENSP00000501931.1:n.-192G>A
ENST00000675202.1:c.-157G>A	ENSP00000502843.1:n.-157G>A
ENST00000675331.1:c.-157G>A	ENSP00000502031.1:n.-157G>A
ENST00000675390.1:c.-157G>A	ENSP00000501969.1:n.-157G>A
ENST00000675430.1:n.71G>A
ENST00000675621.1:c.-157G>A	ENSP00000502117.1:n.-157G>A
ENST00000675764.1:c.-157G>A	ENSP00000502242.1:n.-157G>A
ENST00000676077.1:c.-163-27240G>A	ENSP00000502507.1:n.-163-27240G>A
ENST00000676098.1:c.-157G>A	ENSP00000502735.1:n.-157G>A
ENST00000676188.1:c.-157G>A	ENSP00000502577.1:n.-157G>A
ENST00000676201.1:n.83G>A
ENST00000676353.1:c.-267G>A	ENSP00000502737.1:n.-267G>A
ENST00000676456.1:n.34G>A
ENST00000397195.9:c.-157G>A	ENSP00000380378.4:n.-157G>A
ENST00000570400.1:c.-157G>A	ENSP00000460258.1:n.-157G>A
ENST00000571289.1:n.73G>A
ENST00000572915.6:n.84G>A
ENST00000574816.5:n.30+28564G>A
ENST00000575477.5:n.431G>A
ENST00000576586.5:c.-157G>A	ENSP00000461087.1:n.-157G>A
NM_000430.3:c.-157G>A	NP_000421.1:n.-157G>A
XM_011523901.1:c.-157G>A	XP_011522203.1:n.-157G>A
XM_011523902.1:c.-157G>A	XP_011522204.1:n.-157G>A
XM_011523903.1:c.-157G>A	XP_011522205.1:n.-157G>A
XM_011523904.1:c.-157G>A	XP_011522206.1:n.-157G>A
XM_011523901.2:c.-157G>A	XP_011522203.1:n.-157G>A
XM_011523902.3:c.-157G>A	XP_011522204.1:n.-157G>A
XM_011523903.2:c.-157G>A	XP_011522205.1:n.-157G>A
XM_017024701.1:c.-157G>A	XP_016880190.1:n.-157G>A
XM_017024702.2:c.-267G>A	XP_016880191.1:n.-267G>A
NM_000430.4:c.-157G>A MANE Select	NP_000421.1:n.-157G>A